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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
G. Cappuccio, C. Sayou, PL. Tanno, E. Tisserant, AL. Bruel, SE. Kennani, J. Sá, KJ. Low, C. Dias, M. Havlovicová, M. Hančárová, EE. Eichler, F. Devillard, S. Moutton, J. Van-Gils, C. Dubourg, S. Odent, B. Gerard, A. Piton, T. Yamamoto, N....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články, práce podpořená grantem
Grantová podpora
GSP15001
Telethon - Italy
209568/Z/17/Z
Wellcome Trust - United Kingdom
Department of Health - United Kingdom
NV17-29423A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
NLK
ProQuest Central
od 2011-01-01 do 2021-12-31
Health & Medicine (ProQuest)
od 2011-01-01 do 2021-12-31
ROAD: Directory of Open Access Scholarly Resources
od 1998
- MeSH
- blefarofimóza * MeSH
- faciální stigmatizace MeSH
- fenotyp MeSH
- hypotrichóza * MeSH
- lidé MeSH
- mentální retardace * genetika MeSH
- transkripční faktory genetika MeSH
- vrozené deformity nohy (od hlezna dolů) MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
PURPOSE: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital anomalies. Other disorders due to SMARCA2 are unknown. METHODS: By next-generation sequencing, we identified candidate variants in SMARCA2 in 20 individuals from 18 families with a syndromic neurodevelopmental disorder not consistent with NCBRS. To stratify variant interpretation, we functionally analyzed SMARCA2 variants in yeasts and performed transcriptomic and genome methylation analyses on blood leukocytes. RESULTS: Of 20 individuals, 14 showed a recognizable phenotype with recurrent features including epicanthal folds, blepharophimosis, and downturned nasal tip along with variable degree of intellectual disability (or blepharophimosis intellectual disability syndrome [BIS]). In contrast to most NCBRS variants, all SMARCA2 variants associated with BIS are localized outside the helicase domains. Yeast phenotype assays differentiated NCBRS from non-NCBRS SMARCA2 variants. Transcriptomic and DNA methylation signatures differentiated NCBRS from BIS and those with nonspecific phenotype. In the remaining six individuals with nonspecific dysmorphic features, clinical and molecular data did not permit variant reclassification. CONCLUSION: We identified a novel recognizable syndrome named BIS associated with clustered de novo SMARCA2 variants outside the helicase domains, phenotypically and molecularly distinct from NCBRS.
Birmingham Women's NHS Foundation Trust Birmingham UK
Cambridge University Hospitals NHS Foundation Trust Cambridge Biomedical Campus Cambridge UK
Centre de génétique humaine Université de Franche Comté Besançon France
Centre de Référence Déficiences Intellectuelles de Causes Rares CHU Dijon Dijon France
Clinical Genetics Great Ormond Street Hospital for Children NHS Foundation Trust London UK
CPDPN Pôle mère enfant Maison de Santé Protestante Bordeaux Bagatelle Talence France
Dell Children's Medical Group Austin TX USA
Department of Genetics and Metabolism Children's National Medical Center Washington DC USA
Department of Genetics Robert Debré Hospital AP HP Paris France
Department of Genome Sciences University of Washington School of Medicine Seattle WA USA
Department of Medical and Molecular Genetics King's College London UK
Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan
Department of Medical Genetics Poitiers University Hospital Poitiers France
Department of Pathology and Laboratory Medicine Western University London Canada
Department of Pediatrics The University of Texas at Austin Dell Medical School Austin TX USA
Department of Precision Medicine University of Campania Luigi Vanvitelli Naples Italy
Department of Translational Medicine Federico 2 University Naples Italy
Howard Hughes Medical Institute University of Washington Seattle WA USA
Inserm U1209 CNRS UMR 5309 Univ Grenoble Alpes Institute for Advanced Biosciences Grenoble France
Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch France
Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan
Manchester Centre for Genomic Medicine Manchester UK
Molecular Genetics Laboratory Victoria Hospital London Health Sciences Centre London ON Canada
Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust Oxford UK
Service de Génétique Moléculaire et Génomique BMT HC « Jean Dausset » Rennes France
Telethon Institute of Genetics and Medicine Pozzuoli Italy
The Francis Crick Institute London UK
Tokyo Women's Medical University Institute of Integrated Medical Sciences Tokyo Japan
UF Innovation en diagnostic génomique des maladies rares CHU Dijon Dijon France
University Clinic of Genetics Faculty of Medicine Universidade de Coimbra Coimbra Portugal
University Hospitals Bristol NHS Foundation Trust University of Bristol Bristol UK
Citace poskytuje Crossref.org
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